Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis

Yoshizawa, Kaname; Ôta, Masao; Katsuyama, Yoshihiko; Ichijo, Tetsuya; Matsumoto, Akihiro; Tanaka, Eiji; Kiyosawa, Kendo

doi:10.1016/j.jhep.2004.12.019

Cited by 99 publications

(78 citation statements)

References 42 publications

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“…HLA DRB1,04 has been reported to be a significant risk factor in different studies (29)(30)(31)(32)(33)(34)(35)(36)(37)(38). The frequency of A24,9, A26, A32, DRB1,15 was high in our type-1 subjects, the frequency of A26, B51, DRB1,11 was high in our type 2 subjects and the frequency of A32 and DRB1,04 was found high in the undefined type.…”

Section: Discussionsupporting

confidence: 44%

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Gulec¹,

Urgancı²,

Demirel³

et al. 2012

tpa

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Aim:This study aimed to review a series of patients with autoimmune hepatitis in terms of disease pattern, laboratory results, treatment outcomes and adverse effects of treatment. Material and Method: Children with autoimmune hepatitis were retrospectively reviewed. In all patients, viral and metobolic etiologies were excluded. Patients were classified as type-1, type-2 and non-classified type, as well as acute and chronic groups. Treatment response and cessation of treatment were evaluated. Results: Patients were beetween 4 and 17 years old (12±2.68 years). Twenty patients were female, 11 patients were male. Seventeen percent of the patients were in the acute group and 14% were in the chronic group; 18% were in the type-1 group, 6% were in the type-2 group and 7% were in the non-classified type group. Deflazacort was started in all patients. Azothiopurine (2 mg/kg/day) was added in 10 patients with late response at the end of the third month. Deflazacort dosage was decreased at 6-8 weeks intervals and continued at a maintenance dosage of 5 mg/day. After a two-year period complete response was obtained in 24 patients and partial response was obtained in 5 patients. No response was obtained in 2 patients. During the nine-year follow-up period, treatment was ended in 6 patients. In one patient, there was a recurrance in 6 months; the remaining 5 patients are still being followed up without a problem. Despite treatment, portal hypertension was observed in 5 patients. Conclusions: Early diagnosis and treatment of childhood autoimmune hepatitis can decrease the risk of progression to cirrhosis and can increase the survival. Deflazocort can be a choice instead of prednisolone because of its efficiency in treatment and lesser side effects. (Turk Arch Ped 2012; 47: 29-34)

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Section: Discussionsupporting

confidence: 44%

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Gulec¹,

Urgancı²,

Demirel³

et al. 2012

tpa

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“…Since HLA genome is highly complicated and results were from epidemiologic studies only, it will be crucial to prove the "shared motif" hypothesis of triggering antigenic peptides bound to the HLA-class II groove to reveal these yet uncovered antigens and the exact mechanisms in AIH pathogenesis. In other Japanese studies, AIH patients who were negative for DR4 were mainly DR2, although the frequency of DR2 was similar between patients and controls [11,16]. Miyake et al reported that patients with DR2 had a lower frequency of concurrent autoimmune diseases [20].…”

Section: Hla Susceptibility Genesmentioning

confidence: 89%

“…We earlier performed HLA-genotyping of Japanese AIH patients and showed that the predisposition to type 1 AIH was associated with DRB1*04:05, as well as with DQB1*04:01 (Table 2), which is in strong linkage disequilibrium with DRB1*04:05 [16].…”

Section: Hla Susceptibility Genesmentioning

confidence: 99%

Genetic background of autoimmune hepatitis in Japan

2010

Self Cite

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“…52 Studies from Northern Europe and the United States have revealed a marked genetic association of the HLA-DRB1*0301 and HLA-DRB1*0401 alleles with increased risk of type 1 AIH in Caucasian populations. 53,54 Moreover, type 1 AIH is associated with the HLA-DRB1*0405-DQB1*0401 haplotype in Japanese, 55 the HLA-DRB1*1301 allele in South Americans, 56 and the HLA-DRB1*0404 allele in Mexicans. 57 Altogether, these findings emphasize the importance of ethnic origin as related to the HLA-mediated susceptibility of AIH.…”

Section: Paradigms Of Rare Complex Liver Diseasesmentioning

confidence: 99%

Genomics and complex liver disease: Challenges and opportunities

Juran

Lazaridis

2006

Hepatology

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The concept of genetic susceptibility in the contribution to human disease is not new. What is new is the emerging ability of the field of genomics to detect, assess, and interpret genetic variation in the study of susceptibility to development of disease. Deciphering the human genome sequence and the publication of the human haplotype map are key elements of this effort. However, we are only beginning to understand the contribution of genetic predisposition to complex liver disease through its interaction with environmental risk factors. In the coming decade, we anticipate the development of human studies to better dissect the genotype/phenotype relationship of complex liver diseases. This endeavor will require large, well-phenotyped patient populations of each disease of interest and proper study designs aimed at answering important questions of hepatic disease prognosis, pathogenesis, and treatment. Teamwork between patients, physicians, and genomics scientists can ensure that this opportunity leads to important biological discoveries and improved treatment of complex disease. (HEPATOLOGY 2006;44:1380-1390

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Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis

Cited by 99 publications

References 42 publications

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Genetic background of autoimmune hepatitis in Japan

Genomics and complex liver disease: Challenges and opportunities

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